HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

Autor: Tedesco, B., Vendredy, L., Adriaenssens, E., Cozzi, M., Asselbergh, B., Crippa, V., Cristofani, R., Rusmini, P., Ferrari, V., Casarotto, E., Chierichetti, M., Mina, F., Pramaggiore, P., Galbiati, M., Piccolella, M., Baets, J., Baeke, F., De Rycke, R., Mouly, V., Laurenzi, T., Eberini, I., Vihola, A., Udd, B., Weiss, L., Kimonis, V., Timmerman, V., Poletti, A.

Publikováno v: Autophagy

Chaperone-assisted selective autophagy (CASA) is a highly selective pathway for the disposal of misfolding and aggregating proteins. In muscle, CASA assures muscle integrity by favoring the turnover of structural components damaged by mechanical stra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6623411967131e942a851a16fe77cf13
https://repository.uantwerpen.be/docstore/d:irua:16293

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

Autor: Gusareva, E, Twizere, J, Sleegers, K, Dourlen, P, Abisambra, J, Meier, S, Cloyd, R, Weiss, B, Dermaut, B, Bessonov, K, Van Der Lee, S, Carrasquillo, M, Katsumata, Y, Cherkaoui, M, Asselbergh, B, Ikram, M, Mayeux, R, Farrer, L, Haines, J, Pericak-Vance, M, Schellenberg, G, (GERAD1), Genetic And Environmental Risk In Alzheimer'S Disease 1 Consortium, (ADGC), Alzheimer'S Disease Genetics Consortium, Consortium), European Alzheimer Disease Initiative Investigators (EADI1, Sims, R, Williams, J, Amouyel, P, Van Duijn, C, Ertekin-Taner, N, Van Broeckhoven, C, Dequiedt, F, Fardo, D, Lambert, J, Van Steen, K

Publikováno v: Genetic and Environmental Risk in Alzheimer's Disease 1 consortium (GERAD1), Alzheimer's Disease Genetics Consortium (ADGC) & The European Alzheimer Disease Initiative Investigators (EADI1 Consortium) 2018, ' Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease ', Neurobiology of Aging, vol. 72, pp. 188.e3-188.e12 . https://doi.org/10.1016/j.neurobiolaging.2018.08.001
Neurobiology of Aging, 72:188.e3. Elsevier Inc.
Neurobiology of Aging, 72, 188.e3-188.e12. Elsevier Inc.
Neurobiology of aging

Systematic epistasis analyses in multifactorial disorders are an important step to better characterize complex genetic risk structures. We conducted a hypothesis-free sex-stratified genome-wide screening for epistasis contributing to Alzheimer's dise

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc25b12096d2441af41f279187055cb
https://research.vumc.nl/en/publications/1960eb30-8817-4d3d-97ae-5f86bf852641

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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

Autor: Hardies, K., De Kovel, C. G. F., Weckhuysen, S., Asselbergh, B., Geuens, T., Deconinck, T., Azmi, A., May, P., Brilstra, E., Becker, F., Barisic, N., Craiu, D., Braun, K. P. J., Lal, D., Thiele, H., Schubert, J., Weber, Y., Van 'T Slot, R., Nurnberg, P., Balling, R., Timmerman, V., Lerche, H., Maudsley, S., Helbig, I., Suls, A., Koeleman, B. P. C., De Jonghe, P., Afawi, Z., Baulac, S., Caglayan, H., Lopez, R. G., Guerrini, R., Hjalgrim, H., Jahn, J., Klein, K. M., Leguern, E., Lemke, J., Marini, C., Muhle, H., Rosenow, F., Serratosa, J., Sterbova, K., Moller, R. S., Striano, P., Zara, F.

Publikováno v: Brain
Hardies, K, de Kovel, C G F, Weckhuysen, S, Asselbergh, B, Geuens, T, Deconinck, T, Azmi, A, May, P, Brilstra, E, Becker, F, Barisic, N, Craiu, D, Braun, K P J, Lal, D, Thiele, H, Schubert, J, Weber, Y, van 't Slot, R, Nürnberg, P, Balling, R, Timmerman, V, Lerche, H, Maudsley, S, Helbig, I, Suls, A, Koeleman, B P C, De Jonghe, P, autosomal recessive working group of the EuroEPINOMICS RES Consortium, Hjalgrim, H & Møller, R S 2015, ' Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia ', Brain, vol. 138, no. 11, pp. 3238-3250 . https://doi.org/10.1093/brain/awv263
Brain, 138(11), 3238. Oxford University Press
Brain.

The epileptic encephalopathies are a clinically and aetiologically heterogeneous subgroup of epilepsy syndromes. Most epileptic encephalopathies have a genetic cause and patients are often found to carry a heterozygous de novo mutation in one of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5565c5aaa24601bf0e6b416cf03b28d9
https://dspace.library.uu.nl/handle/1874/332043